Table 1 Findings in 15 patients with ALG8 deficiency
Skladal [11] | Charlwood [14] | Chantret [8] | Schollen [15] | Eklund [9] | Vesela [16] | Stölting [17] | Sorte [18] | Patients 1, 2, 5 | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sex | F | M | M | F | F | M | M | F | M | F | F | M | M | M | F |
Prenatal Data | |||||||||||||||
IUGR | / | / | Yes | / | Yes | No | No | No | No | No | Yes | No | No | No | No |
Oligohydramnios | / | / | Yes | / | Yes | No | No | Yes | No | No | No | No | Yes | Yes | No |
Hydrops fetalis | / | / | ND | / | / | / | / | Yes | No | No | / | No | Yes | Yes | No |
Neonatal data | |||||||||||||||
Weeks of gestation | / | 36 w (CS) | 35 w (CS) | / | / | 35 w | 37 w | 29 w (CS) | At term | At term | 39 w (CS) | 35 w | 34 w (CS) | 35 w (CS) | 37 w (CS) |
Birth weight | / | 2,590 g | 2,280 g | / | / | 2,920 g | 3,070 g | 1,420 g | 3,980 g | 3,680 g | 2,210 g | 2,920 g | 2,570 g | 2,700 g | 3,080 g |
Clinical symptoms | |||||||||||||||
Ascites/edemas | / | Yes | Yes | Yes | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes | |
Onset of first symptoms | From birth | From birth | 4 months | From birth | 8 weeks | From birth | From birth | From birth | From birth | From birth | From birth | From birth | From birth | From birth | |
Dysmorphism | Yes | Yes | No | Yes | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | |
Gastrointestinal symptoms | / | Yes | Yes | No | Yes | Yes | Yes | No | No | Yes | Yes | No | Yes | Yes | |
Brain involvement | Yes | Yes | No | / | Yes | Yes | Yes | Yes | Yes | Yes | Yes | / | Yes | Yes | |
Hypotonia | / | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | |
Skin involvement | / | Yes | No | / | Yes | No | No | Yes | Yes | Yes | Yes | No | No | Yes | |
Eye symptoms | Cataract | No | Retinopathy | / | No | Cataract | Optic atrophy | No | No | Nystagmus | No | Cataract | Cataract | Cataract | |
Laboratory data | |||||||||||||||
Thrombocytopenia | / | Yes | / | Yes | Yes | Yes | Yes | / | / | Yes | Yes | / | Yes | Yes | |
Coagulopathy | Yes | Yes | Yes | Yes | ND | Yes | Yes | / | / | Yes | Yes | / | Yes | No | |
Hyponatremia | / | Yes | / | Yes | Yes | Yes | / | / | / | / | Yes | Yes | Yes | Yes | |
Increased transaminases | Yes | Yes | No | / | Yes | Yes | No | / | / | Yes | Yes | / | Yes | No | |
Survival | 30 months | 4 years | 3 months | >3 years | 3 days | 3 months | 16 months | 2 months | >6 years | >7 years | 8,5 months | 3 months | 15 min | 34 days | 39 days |
ALG8 mutations | / | Homozygous | Comp. het. | Comp. het. | Comp. het. | Comp. het. | Homozygous | Comp. het. | Comp. het. | Comp. het. | Comp. het. | Comp. het. | / | Comp. het. | Comp. het. |
Mutation 1 (genomic) | c.139A>C | c.139A>C | c.413delC | c.139A>C | c.673+4A>G | c.139A>C | c.139A>C | c.845C>T | c.845C>T | c.799T>C | c.673+4A>G | c.139A>C | c.139A>C | ||
Mutation 1 (functional) | p.T47P | p.T47P | p.T138Kfs*19 | p.T47P | Splice mutation | p.T47P | p.T47P | p.A282V | p.A282V | p.S267P | Splice mutation | p.T47P | p.T47P | ||
Mutation 2 (genomic) | c.139A>C | c.96-2A>G | c.396insA | c.96-2A>G | c.824G>A | c.139A>C | c.1090C>T | c.1436delC | c.1436delC | c.808T>C | c.824G>A | c.1090C>T | c.1219_1220delCT | ||
Mutation 2 (functional) | p.T47P | Splice mutation | p.V133Sfs*3 | Splice mutation | p.G275D | p.T47P | p.R364* | p.P479Lfs*6 | p.P479Lfs*6 | p.F270L | p.G275D | p.A364* | p.L407Dfs*23 | ||